MPEI
MCID: MLG120
MIFTS: 43

Malignant Migrating Partial Seizures of Infancy (MPEI)

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Malignant Migrating Partial Seizures of Infancy

MalaCards integrated aliases for Malignant Migrating Partial Seizures of Infancy:

Name: Malignant Migrating Partial Seizures of Infancy 20 43 58 29 6
Malignant Migrating Partial Epilepsy of Infancy 20 43 58
Migrating Partial Epilepsy of Infancy 20 43 58
Migrating Partial Seizures of Infancy 20 43 58
Mmpsi 20 43 58
Epilepsy of Infancy with Migrating Focal Seizures 20 58
Malignant Migrating Focal Seizures of Infancy 20 58
Early Infantile Epileptic Encephalopathy 14 20 43
Migrating Partial Seizures in Infancy 20 43
Eiee14 20 43
Mmpei 20 58
Mpei 20 58
Mpsi 20 58
Malignant Migrating Partial Seizures in Infancy 36
Epileptic Encephalopathy, Early Infantile, 14 71

Characteristics:

Orphanet epidemiological data:

58
malignant migrating focal seizures of infancy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

KEGG 36 H01815
Orphanet 58 ORPHA293181
UMLS 71 C3554195

Summaries for Malignant Migrating Partial Seizures of Infancy

MedlinePlus Genetics : 43 Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. Although affected individuals may develop normally at first, progression stalls and skills decline when seizures begin; as a result, affected individuals have profound developmental delay.The seizures in MMPSI are described as partial (or focal) because the seizure activity occurs in regions of the brain rather than affecting the entire brain. Seizure activity can appear in multiple locations in the brain or move (migrate) from one region to another during an episode. Depending on the region affected, seizures can involve sudden redness and warmth (flushing) of the face; drooling; short pauses in breathing (apnea); movement of the head or eyes to one side; twitches in the eyelids or tongue; chewing motions; or jerking of an arm, leg, or both on one side of the body. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking (tonic-clonic seizure). Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.Initially, the seizures associated with MMPSI are relatively infrequent, occurring every few weeks. Within a few months of the seizures starting, though, the frequency increases. Affected individuals can have clusters of five to 30 seizures several times a day. Each seizure typically lasts seconds to a couple of minutes, but they can be prolonged (classified as status epilepticus). In some cases, the seizure activity may be almost continuous for several days. After a year or more of persistent seizures, the episodes become less frequent.Seizures can affect growth of the brain and lead to a small head size (microcephaly). The problems with brain development can also cause profound developmental delay and intellectual impairment. Affected babies often lose the mental and motor skills they developed after birth, such as the ability to make eye contact and control their head movement. Many have weak muscle tone (hypotonia) and become "floppy." If seizures can be controlled for a short period, development may improve. Some affected children learn to reach for objects or walk. However, most children with this condition do not develop language skills.Because of the serious health problems caused by MMPSI, many affected individuals do not survive past infancy or early childhood.

MalaCards based summary : Malignant Migrating Partial Seizures of Infancy, also known as malignant migrating partial epilepsy of infancy, is related to developmental and epileptic encephalopathy 14 and seizure disorder, and has symptoms including clonus and twitching of facial muscles. An important gene associated with Malignant Migrating Partial Seizures of Infancy is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1), and among its related pathways/superpathways are Neuroscience and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Clopidogrel and Ticagrelor have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and tongue, and related phenotype is nervous system.

GARD : 20 Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy, a condition characterized by recurrent seizures. In MMPSI, specifically, partial seizures generally begin shortly after birth and are often not responsive to treatment. Although the seizures may occur relatively infrequently in the beginning, within a few months the frequency increases drastically with some affected people experiencing clusters of 5 to 30 seizures several times per day. Signs and symptoms associated with these episodes vary based on which part of the brain is affected during a given seizure. Although the seizures associated with MMPSI do eventually become less frequent, the long-term consequences of the condition may include profound developmental delay, microcephaly (unusually small head size), intellectual disability and a shortened lifespan (many do not survive past infancy or early childhood). Although the underlying cause of MMPSI is not fully understood, de novo mutations in certain genes have been identified in several affected people and are thought to be involved in the development of the condition. Even when a genetic cause is identified, most cases of MMPSI occur sporadically in people with no family history of the condition. Treatment is generally focused on minimizing recurrent seizures. Unfortunately, the seizures associated with MMPSI are usually not well-controlled with medications that are typically prescribed to treat epilepsy.

KEGG : 36 Malignant migrating partial seizures in infancy (MMPSI) are rare, severe early infantile onset epileptic encephalopathy. The common clinical features are seizure onset within the first 6 months of life, occurrence of migrating polymorphic focal seizures, and progressive deterioration of psychomotor development. Seizures in MMPSI are refractory to conventional treatment with anti-epileptic drugs (AEDs). Early and multiple video/EEG recordings are critical to detect the characteristic multifocal and asynchronous long lasting ictal discharges and are essential for MMPSI diagnosis. MMPSI is a genetically heterogeneous disorder with few known etiologies. Recently, mutations of several genes have been reported in sporadic cases of MMPSI.

Related Diseases for Malignant Migrating Partial Seizures of Infancy

Diseases related to Malignant Migrating Partial Seizures of Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 14 32.6 SCN2A SCN1A KCNT1
2 seizure disorder 30.6 TBC1D24 SCN2A SCN1A
3 febrile seizures 30.4 SCN2A SCN1A
4 developmental and epileptic encephalopathy 34 30.4 SLC12A5 LOC113960611
5 autosomal dominant nocturnal frontal lobe epilepsy 30.1 SCN2A SCN1A KCNT1
6 focal epilepsy 29.9 TBC1D24 SCN2A SCN1A KCNT1
7 lennox-gastaut syndrome 29.6 SLC25A22 SCN2A SCN1A KCNT1
8 encephalopathy 29.6 SLC25A22 SCN2A SCN1A KCNT1
9 epilepsy 29.5 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A PLCB1
10 early myoclonic encephalopathy 29.2 TBC1D24 SLC25A22 SCN2A SCN1A KCNT1
11 dravet syndrome 28.8 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A KCNT1
12 west syndrome 28.6 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A PLCB1
13 early infantile epileptic encephalopathy 28.2 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A PLCB1
14 developmental and epileptic encephalopathy 57 11.4
15 developmental and epileptic encephalopathy 12 11.3
16 scn1a-related seizure disorders 11.3
17 scheie syndrome 11.0
18 hypotonia 10.6
19 microcephaly 10.6
20 slc12a5-related epilepsy of infancy with migrating focal seizures 10.5
21 status epilepticus 10.4
22 rigidity and multifocal seizure syndrome, lethal neonatal 10.4
23 scoliosis 10.4
24 developmental and epileptic encephalopathy 10.4
25 movement disease 10.4
26 ohtahara syndrome 10.4
27 spasticity 10.4
28 rare epilepsy 10.3
29 gastroesophageal reflux 10.3
30 hand skill, relative 10.3
31 developmental and epileptic encephalopathy 3 10.3
32 developmental and epileptic encephalopathy 11 10.3
33 cyanosis, transient neonatal 10.3
34 developmental and epileptic encephalopathy 45 10.3
35 episodic ataxia, type 9 10.3
36 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.3
37 kcnq2-related disorders 10.3
38 hypertonia 10.3
39 developmental and epileptic encephalopathy 16 10.2
40 alacrima, achalasia, and mental retardation syndrome 10.2
41 hypokalemia 10.2
42 kcnt1-related epilepsy 10.2
43 tbc1d24-related disorders 10.2
44 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.1 TBC1D24 SCN2A
45 strabismus 10.1
46 respiratory failure 10.1
47 mechanical strabismus 10.1
48 congenital disorders of n-linked glycosylation and multiple pathway 10.1
49 myoclonus 10.1
50 infantile epilepsy syndrome 10.1

Graphical network of the top 20 diseases related to Malignant Migrating Partial Seizures of Infancy:



Diseases related to Malignant Migrating Partial Seizures of Infancy

Symptoms & Phenotypes for Malignant Migrating Partial Seizures of Infancy

UMLS symptoms related to Malignant Migrating Partial Seizures of Infancy:


clonus, twitching of facial muscles

MGI Mouse Phenotypes related to Malignant Migrating Partial Seizures of Infancy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 KCNT1 PLCB1 SCN1A SCN2A SLC12A5 TBC1D24

Drugs & Therapeutics for Malignant Migrating Partial Seizures of Infancy

Drugs for Malignant Migrating Partial Seizures of Infancy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clopidogrel Approved 120202-66-6, 113665-84-2 60606
2
Ticagrelor Approved 274693-27-5 9871419

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Ticagrelor and Clopidogrel on Coronary Microcirculation in Patients With Acute Myocardial Infarction Completed NCT03104062

Search NIH Clinical Center for Malignant Migrating Partial Seizures of Infancy

Genetic Tests for Malignant Migrating Partial Seizures of Infancy

Genetic tests related to Malignant Migrating Partial Seizures of Infancy:

# Genetic test Affiliating Genes
1 Malignant Migrating Partial Seizures of Infancy 29

Anatomical Context for Malignant Migrating Partial Seizures of Infancy

MalaCards organs/tissues related to Malignant Migrating Partial Seizures of Infancy:

40
Brain, Eye, Tongue

Publications for Malignant Migrating Partial Seizures of Infancy

Articles related to Malignant Migrating Partial Seizures of Infancy:

(show all 31)
# Title Authors PMID Year
1
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 6 61
23526554 2013
2
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 61 6
23086397 2012
3
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. 6
26333769 2015
4
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. 6
24120652 2014
5
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 6
24029078 2013
6
TBC1D24 truncating mutation resulting in severe neurodegeneration. 6
23343562 2013
7
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. 6
21087195 2010
8
VU0606170, a Selective Slack Channels Inhibitor, Decreases Calcium Oscillations in Cultured Cortical Neurons. 61
33143429 2020
9
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel. 61
32038177 2020
10
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox. 61
29542386 2018
11
A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures. 61
29037447 2018
12
Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy. 61
26784557 2016
13
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 61
24888894 2014
14
Lack of pathogenic mutations in six patients with MMPSI. 61
24315024 2014
15
Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population. 61
24279416 2014
16
Genetic heterogeneity in malignant migrating partial seizures of infancy. 61
24243345 2014
17
KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes. 61
23278465 2013
18
Genetics of the epilepsies: where are we and where are we going? 61
23429546 2013
19
Malignant migrating partial seizures of infancy controlled by stiripentol and clonazepam. 61
22521903 2013
20
Malignant migrating partial seizures in infancy. 61
23622207 2013
21
[The syndrome of malignant migrating partial seizures in infancy or Coppola-Dulac syndrome (19 cases)]. 61
23612406 2013
22
A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. 61
22197566 2012
23
Therapeutic hypothermia for refractory status epilepticus in a child with malignant migrating partial seizures of infancy and SCN1A mutation: a case report. 61
23667778 2012
24
De novo SCN1A mutations in migrating partial seizures of infancy. 61
21753172 2011
25
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. 61
21555645 2011
26
Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases. 61
21393094 2011
27
[Malignant migrating partial seizures of infancy: the experience of treatment of status epilepticus in infancy using intravenous valproate--convulex (a clinical case)]. 61
20873470 2010
28
Design of nateglinide controlled release tablet containing erosion matrix tablet and multiple administration study in normal beagle dogs. 61
19721250 2009
29
Epilepsy syndromes in infancy. 61
16638498 2006
30
A novel nonpeptidic caspase-3/7 inhibitor, (S)-(+)-5-[1-(2-methoxymethylpyrrolidinyl)sulfonyl]isatin reduces myocardial ischemic injury. 61
12450570 2002
31
Successful control with bromide of two patients with malignant migrating partial seizures in infancy. 61
10761836 2000

Variations for Malignant Migrating Partial Seizures of Infancy

ClinVar genetic disease variations for Malignant Migrating Partial Seizures of Infancy:

6 (show top 50) (show all 728)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNT1 NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) SNV Pathogenic 39596 rs370521183 9:138667192-138667192 9:135775346-135775346
2 TBC1D24 NM_020705.3(TBC1D24):c.966-529GT[2] Microsatellite Pathogenic 56845 rs398122941 16:2547710-2547711 16:2497709-2497710
3 KCNT1 NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) SNV Pathogenic 92165 rs886044717 9:138671269-138671269 9:135779423-135779423
4 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 9:138651532-138651532 9:135759686-135759686
5 SLC12A5 NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) SNV Pathogenic 217905 rs863225305 20:44674530-44674530 20:46045891-46045891
6 SLC12A5 NM_020708.5(SLC12A5):c.863T>A (p.Leu288His) SNV Pathogenic 217906 rs863225306 20:44669976-44669976 20:46041337-46041337
7 SLC12A5 NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) SNV Pathogenic 217904 rs863225304 20:44671933-44671933 20:46043294-46043294
8 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 9:138657552-138657552 9:135765706-135765706
9 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) SNV Pathogenic 39594 rs397515403 9:138671275-138671275 9:135779429-135779429
10 KCNT1 NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) SNV Pathogenic 412308 rs1060503696 9:138670626-138670626 9:135778780-135778780
11 KCNT1 NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) SNV Pathogenic 473378 rs886043455 9:138675877-138675877 9:135784031-135784031
12 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) SNV Pathogenic 39595 9:138660694-138660694 9:135768848-135768848
13 SLC12A5 NM_020708.5(SLC12A5):c.980dup (p.Asn328fs) Duplication Pathogenic 475662 rs1555863593 20:44670092-44670093 20:46041453-46041454
14 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) SNV Pathogenic 286710 9:138675877-138675877 9:135784031-135784031
15 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 9:138651532-138651532 9:135759686-135759686
16 SLC12A5 NM_020708.5(SLC12A5):c.706_707TG[2] (p.Val237fs) Microsatellite Pathogenic 542316 rs1555863145 20:44669105-44669106 20:46040466-46040467
17 SLC12A5 NM_020708.5(SLC12A5):c.279+1G>C SNV Pathogenic 623492 rs1568858867 20:44664175-44664175 20:46035536-46035536
18 SLC12A5 NM_020708.5(SLC12A5):c.572C>T (p.Ala191Val) SNV Pathogenic 623493 rs1568859798 20:44665984-44665984 20:46037345-46037345
19 SLC12A5 NM_020708.5(SLC12A5):c.953G>C (p.Trp318Ser) SNV Pathogenic 623494 rs1259210706 20:44670066-44670066 20:46041427-46041427
20 SLC12A5 NM_020708.5(SLC12A5):c.967T>C (p.Ser323Pro) SNV Pathogenic 623495 rs1220094830 20:44670080-44670080 20:46041441-46041441
21 SLC12A5 NM_020708.5(SLC12A5):c.1127C>T (p.Ser376Leu) SNV Pathogenic 623496 rs1568862550 20:44671852-44671852 20:46043213-46043213
22 SLC12A5 NM_020708.5(SLC12A5):c.1243A>G (p.Met415Val) SNV Pathogenic 623497 rs368484023 20:44672277-44672277 20:46043638-46043638
23 SLC12A5 NM_020708.5(SLC12A5):c.2239_2241TCC[1] (p.Ser748del) Microsatellite Pathogenic 623498 rs1568866916 20:44680370-44680372 20:46051731-46051733
24 SLC12A5 NM_020708.5(SLC12A5):c.2570G>T (p.Arg857Leu) SNV Pathogenic 623499 rs750336750 20:44682239-44682239 20:46053600-46053600
25 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 9:138657552-138657552 9:135765706-135765706
26 KCNT1 NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) SNV Pathogenic 265210 rs866242631 9:138660693-138660693 9:135768847-135768847
27 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) SNV Pathogenic 39594 rs397515403 9:138671275-138671275 9:135779429-135779429
28 SLC12A5 NM_020708.5(SLC12A5):c.115G>T (p.Glu39Ter) SNV Pathogenic 659657 rs1600590580 20:44663649-44663649 20:46035010-46035010
29 KCNT1 NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) SNV Pathogenic 655949 rs1588385233 9:138670656-138670656 9:135778810-135778810
30 SLC12A5 NC_000020.11:g.(?_46045858)_(46046456_?)del Deletion Pathogenic 833486 20:44674497-44675095
31 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) SNV Pathogenic 286710 9:138675877-138675877 9:135784031-135784031
32 SLC12A5 NM_020708.5(SLC12A5):c.2250dup (p.Arg751fs) Duplication Pathogenic 848475 20:44680381-44680382 20:46051742-46051743
33 KCNT1 NM_020822.3(KCNT1):c.2943+1G>C SNV Pathogenic 853172 9:138675972-138675972 9:135784126-135784126
34 KCNT1 NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu) SNV Pathogenic 853550 9:138656879-138656879 9:135765033-135765033
35 KCNT1 NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) SNV Pathogenic 432096 rs1554771469 9:138650285-138650285 9:135758439-135758439
36 LOC100128028 NC_000020.11:g.(?_46021746)_(46057625_?)del Deletion Pathogenic 833121 20:44650385-44686264
37 SLC12A5 NM_020708.5(SLC12A5):c.266del (p.Lys89fs) Deletion Pathogenic 856637 20:44664156-44664156 20:46035517-46035517
38 SLC12A5 NM_020708.5(SLC12A5):c.42dup (p.Ala15fs) Duplication Pathogenic 938667 20:44658024-44658025 20:46029385-46029386
39 SLC12A5 NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter) SNV Pathogenic 934757 20:44658007-44658007 20:46029368-46029368
40 SCN2A NM_001040142.2(SCN2A):c.3967A>G (p.Met1323Val) SNV Pathogenic 375505 rs1057519523 2:166229852-166229852 2:165373342-165373342
41 KCNT1 NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) SNV Pathogenic 280499 rs886041691 9:138661828-138661828 9:135769982-135769982
42 TBC1D24 NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) SNV Pathogenic 56846 rs397514713 16:2546835-2546835 16:2496834-2496834
43 TBC1D24 NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) SNV Pathogenic 56847 rs397514714 16:2546617-2546617 16:2496616-2496616
44 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) SNV Pathogenic 39599 rs397515407 9:138657034-138657034 9:135765188-135765188
45 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) SNV Pathogenic 39599 rs397515407 9:138657034-138657034 9:135765188-135765188
46 KCNT1 NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) SNV Pathogenic 39598 rs397515406 9:138669220-138669220 9:135777374-135777374
47 KCNT1 NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) SNV Pathogenic 39597 rs397515405 9:138671257-138671257 9:135779411-135779411
48 KCNT1 NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) SNV Pathogenic 575241 9:138675924-138675924 9:135784078-135784078
49 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) SNV Pathogenic/Likely pathogenic 39595 9:138660694-138660694 9:135768848-135768848
50 LOC113960611 NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys) SNV Likely pathogenic 495251 rs1555868402 20:44686167-44686167 20:46057528-46057528

Expression for Malignant Migrating Partial Seizures of Infancy

Search GEO for disease gene expression data for Malignant Migrating Partial Seizures of Infancy.

Pathways for Malignant Migrating Partial Seizures of Infancy

Pathways related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.87 SLC12A5 SCN2A SCN1A
2
Show member pathways
11.52 SCN2A SCN1A PLCB1 KCNT1
3
Show member pathways
11.13 SCN2A SCN1A
4 10.43 SCN2A SCN1A

GO Terms for Malignant Migrating Partial Seizures of Infancy

Cellular components related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.32 SCN2A SCN1A
2 T-tubule GO:0030315 9.26 SCN2A SCN1A
3 voltage-gated sodium channel complex GO:0001518 9.16 SCN2A SCN1A
4 node of Ranvier GO:0033268 8.96 SCN2A SCN1A
5 sodium channel complex GO:0034706 8.62 SCN2A SCN1A

Biological processes related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.46 SLC25A22 SLC12A5 SCN2A SCN1A
2 memory GO:0007613 9.37 SCN2A PLCB1
3 cation transmembrane transport GO:0098655 9.32 SCN2A SCN1A
4 neuronal action potential GO:0019228 9.26 SCN2A SCN1A
5 ion transport GO:0006811 9.02 SLC25A22 SLC12A5 SCN2A SCN1A KCNT1
6 membrane depolarization during action potential GO:0086010 8.96 SCN2A SCN1A

Molecular functions related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.16 SCN2A SCN1A
2 sodium channel activity GO:0005272 8.96 SCN2A SCN1A
3 voltage-gated sodium channel activity GO:0005248 8.62 SCN2A SCN1A

Sources for Malignant Migrating Partial Seizures of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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